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Article

The clinical features of retinal disease due to a dominant mutation in RPE65.

Molecular vision - 1 Jan 2016

Hull Sarah, Mukherjee Rajarshi, Holder Graham E, Moore Anthony T, Webster Andrew R

Abstract excerpt

PURPOSE: To present a detailed phenotypic and molecular study of two families with autosomal dominant RPE65-related retinal dystrophy. METHODS: Five patients from two families were ascertained from the retinal clinics of a tertiary referral center. Phenotyping included retinal imaging and electrophysiological testing. Bidirectional Sanger sequencing of exon 13 of RPE65 and its intron-exon boundaries was performed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27307694
PMCID: PMC4901053

Genes

RPE65

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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